Rare Disease Library

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

McPherson-Clemens syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

C syndrome

OTCS · Opitz C trigonocephaly

CLAPO syndrome

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

HERNS syndrome

Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome

Hidrotic ectodermal dysplasia

Clouston syndrome

Incontinentia pigmenti

Bloch-Siemens syndrome · Bloch-Sulzberger syndrome

MEND syndrome

Male EBP disorder with neurological defects

Mietens syndrome

Intellectual disability, Mietens-Weber type

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome